<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Frontotemporal dementia and its subtypes: a genome-wide association study"^^ . "SummaryBackground Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes—MAPT, GRN, and C9orf72—have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with {FTD} and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with {FTD} and 4308 controls), we did separate association analyses for each {FTD} subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and {FTD} overlapping with motor neuron disease FTD-MND), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10−8) single-nucleotide polymorphisms. Findings We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10−8). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, \\{HLA\\} locus (immune system), for rs9268877 (p=1·05 × 10−8; odds ratio=1·204 95% \\{CI\\} 1·11–1·30), rs9268856 (p=5·51 × 10−9; 0·809 0·76–0·86) and rs1980493 (p value=1·57 × 10−8, 0·775 0·69–0·86) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural \\{FTD\\} subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10−7; 0·814 0·71–0·92). Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation in cis. Interpretation Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD. Funding The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/MRC Centre on Parkinson's disease, Alzheimer's Research UK, and Texas Tech University Health Sciences Center."^^ . "2014" . . "13" . "7" . . "Elsevier"^^ . . . "The Lancet Neurology"^^ . . . "14744422" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "John Q"^^ . "Trojanowski"^^ . "John Q Trojanowski"^^ . . "Adrian"^^ . "Danek"^^ . "Adrian Danek"^^ . . "Harro"^^ . "Seelaar"^^ . "Harro Seelaar"^^ . . "Giancarlo"^^ . "Logroscino"^^ . "Giancarlo Logroscino"^^ . . "William"^^ . "Deschamps"^^ . "William Deschamps"^^ . . "Julie S"^^ . "Snowden"^^ . "Julie S Snowden"^^ . . "Jason D"^^ . "Warren"^^ . "Jason D Warren"^^ . . "Wei"^^ . "Gu"^^ . "Wei Gu"^^ . . "William S"^^ . "Brooks"^^ . "William S Brooks"^^ . . "David"^^ . "Knopman"^^ . "David Knopman"^^ . . "Jordi"^^ . "Clarimón"^^ . "Jordi Clarimón"^^ . . "Chiara"^^ . "Cupidi"^^ . "Chiara Cupidi"^^ . . "Elena"^^ . "Alonso"^^ . "Elena Alonso"^^ . . "Huei-Hsin"^^ . "Chiang"^^ . "Huei-Hsin Chiang"^^ . . "Florence"^^ . "Pasquier"^^ . "Florence Pasquier"^^ . . "Edward D"^^ . "Huey"^^ . "Edward D Huey"^^ . . "John B J"^^ . "Kwok"^^ . "John B J Kwok"^^ . . "Alexander"^^ . "Gerhard"^^ . "Alexander Gerhard"^^ . . "Bradley F"^^ . "Boeve"^^ . "Bradley F Boeve"^^ . . "Maria"^^ . "Serpente"^^ . "Maria Serpente"^^ . . "James B"^^ . "Rowe"^^ . "James B Rowe"^^ . . "Nigel J"^^ . "Cairns"^^ . "Nigel J Cairns"^^ . . "Giorgio"^^ . "Giaccone"^^ . "Giorgio Giaccone"^^ . . "Luigi"^^ . "Ferrucci"^^ . "Luigi Ferrucci"^^ . . "John"^^ . "Collinge"^^ . "John Collinge"^^ . . "Johannes"^^ . "Attems"^^ . "Johannes Attems"^^ . . "Elise G P"^^ . "Dopper"^^ . "Elise G P Dopper"^^ . . "Alfredo"^^ . "Postiglione"^^ . "Alfredo Postiglione"^^ . . "Huw R"^^ . "Morris"^^ . "Huw R Morris"^^ . . "Alberto"^^ . "Lleó"^^ . "Alberto Lleó"^^ . . "Matthias"^^ . "Riemenschneider"^^ . "Matthias Riemenschneider"^^ . . "Florence"^^ . "Lebert"^^ . "Florence Lebert"^^ . . "Giuliano"^^ . "Binetti"^^ . "Giuliano Binetti"^^ . . "Stuart"^^ . "Pickering-Brown"^^ . "Stuart Pickering-Brown"^^ . . "Nick C"^^ . "Fox"^^ . "Nick C Fox"^^ . . "Keith A"^^ . "Josephs"^^ . "Keith A Josephs"^^ . . "Jordan"^^ . "Grafman"^^ . "Jordan Grafman"^^ . . "Bernd"^^ . "Ibach"^^ . "Bernd Ibach"^^ . . "Graziella"^^ . "Milan"^^ . "Graziella Milan"^^ . . "John C"^^ . "van Swieten"^^ . "John C van Swieten"^^ . . "Ian G"^^ . "McKeith"^^ . "Ian G McKeith"^^ . . "Maura"^^ . "Gallo"^^ . "Maura Gallo"^^ . . "Didier"^^ . "Hannequin"^^ . "Didier Hannequin"^^ . . "Raffaele"^^ . "Ferrari"^^ . "Raffaele Ferrari"^^ . . "Patrizia"^^ . "Rizzu"^^ . "Patrizia Rizzu"^^ . . "Julie"^^ . "van der Zee"^^ . "Julie van der Zee"^^ . . "Amalia C"^^ . "Bruni"^^ . "Amalia C Bruni"^^ . . "Lauren"^^ . "Bartley"^^ . "Lauren Bartley"^^ . . "Ekaterina"^^ . "Rogaeva"^^ . "Ekaterina Rogaeva"^^ . . "Barbara"^^ . "Borroni"^^ . "Barbara Borroni"^^ . . "Maria Elena"^^ . "Conidi"^^ . "Maria Elena Conidi"^^ . . "Maria"^^ . "Anfossi"^^ . "Maria Anfossi"^^ . . "John R"^^ . "Hodges"^^ . "John R Hodges"^^ . . "Maria Grazia"^^ . "Spillantini"^^ . "Maria Grazia Spillantini"^^ . . "Parastoo"^^ . "Momeni"^^ . "Parastoo Momeni"^^ . . "Neill R."^^ . "Graff-Radford"^^ . "Neill R. Graff-Radford"^^ . . "Marc"^^ . "Cruts"^^ . "Marc Cruts"^^ . . "Rosa"^^ . "Rademakers"^^ . "Rosa Rademakers"^^ . . "Timothy D"^^ . "Griffiths"^^ . "Timothy D Griffiths"^^ . . "Christine Van"^^ . "Broeckhoven"^^ . "Christine Van Broeckhoven"^^ . . "Alan J"^^ . "Thomas"^^ . "Alan J Thomas"^^ . . "Véronique"^^ . "Golfier"^^ . "Véronique Golfier"^^ . . "Valeria"^^ . "Novelli"^^ . "Valeria Novelli"^^ . . "Murray"^^ . "Grossman"^^ . "Murray Grossman"^^ . . "Alexander"^^ . "Kurz"^^ . "Alexander Kurz"^^ . . "Atik"^^ . "Baborie"^^ . "Atik Baborie"^^ . . "Elio"^^ . "Scarpini"^^ . "Elio Scarpini"^^ . . "Rafael"^^ . "Blesa"^^ . "Rafael Blesa"^^ . . "Elizabeth"^^ . "Thompson"^^ . "Elizabeth Thompson"^^ . . "Vincent"^^ . "Deramecourt"^^ . "Vincent Deramecourt"^^ . . "Agustín"^^ . "Ruiz"^^ . "Agustín Ruiz"^^ . . "Martin N"^^ . "Rossor"^^ . "Martin N Rossor"^^ . . "Michael C."^^ . "Tierney"^^ . "Michael C. Tierney"^^ . . "Innocenzo"^^ . "Rainero"^^ . "Innocenzo Rainero"^^ . . "Maria Landqvist"^^ . "Waldö"^^ . "Maria Landqvist Waldö"^^ . . "Philip"^^ . "Scheltens"^^ . "Philip Scheltens"^^ . . "Eric M."^^ . "Wassermann"^^ . "Eric M. Wassermann"^^ . . "Anna M"^^ . "Karydas"^^ . "Anna M Karydas"^^ . . "David M A"^^ . "Mann"^^ . "David M A Mann"^^ . . "Dennis W"^^ . "Dickson"^^ . "Dennis W Dickson"^^ . . "Vivianna M Van"^^ . "Deerlin"^^ . "Vivianna M Van Deerlin"^^ . . "Peter R"^^ . "Schofield"^^ . "Peter R Schofield"^^ . . "Elisa"^^ . "Rubino"^^ . "Elisa Rubino"^^ . . "Christopher M"^^ . "Morris"^^ . "Christopher M Morris"^^ . . "Michael A"^^ . "Nalls"^^ . "Michael A Nalls"^^ . . "Tim Van"^^ . "Langenhove"^^ . "Tim Van Langenhove"^^ . . "Dena G"^^ . "Hernandez"^^ . "Dena G Hernandez"^^ . . "Peter St"^^ . "George-Hyslop"^^ . "Peter St George-Hyslop"^^ . . "Isabel"^^ . "Hernández"^^ . "Isabel Hernández"^^ . . "Lena E"^^ . "Hjermind"^^ . "Lena E Hjermind"^^ . . "Stefano F"^^ . "Cappa"^^ . "Stefano F Cappa"^^ . . "Luisa"^^ . "Benussi"^^ . "Luisa Benussi"^^ . . "Manuel"^^ . "Mayhaus"^^ . "Manuel Mayhaus"^^ . . "Evelyn"^^ . "Jaros"^^ . "Evelyn Jaros"^^ . . "Carol"^^ . "Dobson-Stone"^^ . "Carol Dobson-Stone"^^ . . "Adeline"^^ . "Rollin"^^ . "Adeline Rollin"^^ . . "Andrew B"^^ . "Singleton"^^ . "Andrew B Singleton"^^ . . "Christer"^^ . "Nilsson"^^ . "Christer Nilsson"^^ . . "John"^^ . "Hardy"^^ . "John Hardy"^^ . . "Gilles"^^ . "Gasparoni"^^ . "Gilles Gasparoni"^^ . . "Cristina"^^ . "Razquin"^^ . "Cristina Razquin"^^ . . "Mercè"^^ . "Boada"^^ . "Mercè Boada"^^ . . "Rosa"^^ . "Capozzo"^^ . "Rosa Capozzo"^^ . . "Fabrizio"^^ . "Tagliavini"^^ . "Fabrizio Tagliavini"^^ . . "Sandro"^^ . "Sorbi"^^ . "Sandro Sorbi"^^ . . "Chiara"^^ . "Fenoglio"^^ . "Chiara Fenoglio"^^ . . "Alessandro"^^ . "Padovani"^^ . "Alessandro Padovani"^^ . . "Raffaele"^^ . "Maletta"^^ . "Raffaele Maletta"^^ . . "Alexis"^^ . "Brice"^^ . "Alexis Brice"^^ . . "Dimitrios"^^ . "Kapogiannis"^^ . "Dimitrios Kapogiannis"^^ . . "Sabrina"^^ . "Pichler"^^ . "Sabrina Pichler"^^ . . "Olivier"^^ . "Piguet"^^ . "Olivier Piguet"^^ . . "Sara"^^ . "Rollinson"^^ . "Sara Rollinson"^^ . . "Yolande A L"^^ . "Pijnenburg"^^ . "Yolande A L Pijnenburg"^^ . . "Nicoletta"^^ . "Smirne"^^ . "Nicoletta Smirne"^^ . . "Martine"^^ . "Vercelletto"^^ . "Martine Vercelletto"^^ . . "James"^^ . "Uphill"^^ . "James Uphill"^^ . . "Massimo"^^ . "Franceschi"^^ . "Massimo Franceschi"^^ . . "Jørgen E"^^ . "Nielsen"^^ . "Jørgen E Nielsen"^^ . . "Peter"^^ . "Heutink"^^ . "Peter Heutink"^^ . . "Carlos"^^ . "Cruchaga"^^ . "Carlos Cruchaga"^^ . . "William W"^^ . "Seeley"^^ . "William W Seeley"^^ . . "Lorenzo"^^ . "Pinessi"^^ . "Lorenzo Pinessi"^^ . . "Irene"^^ . "Piaceri"^^ . "Irene Piaceri"^^ . . "Adaikalavan"^^ . "Ramasamy"^^ . "Adaikalavan Ramasamy"^^ . . "Caroline"^^ . "Graff"^^ . "Caroline Graff"^^ . . "Francesca"^^ . "Frangipane"^^ . "Francesca Frangipane"^^ . . "Matt"^^ . "Baker"^^ . "Matt Baker"^^ . . "Livia"^^ . "Bernardi"^^ . "Livia Bernardi"^^ . . "Glenda M"^^ . "Halliday"^^ . "Glenda M Halliday"^^ . . "Howard"^^ . "Rosen"^^ . "Howard Rosen"^^ . . "Panagiotis"^^ . "Alexopoulos"^^ . "Panagiotis Alexopoulos"^^ . . "Pau"^^ . "Pastor"^^ . "Pau Pastor"^^ . . "Johannes C M"^^ . "Schlachetzki"^^ . "Johannes C M Schlachetzki"^^ . . "Jonathan D"^^ . "Rohrer"^^ . "Jonathan D Rohrer"^^ . . "Joseph E"^^ . "Parisi"^^ . "Joseph E Parisi"^^ . . "Benedetta"^^ . "Nacmias"^^ . "Benedetta Nacmias"^^ . . "Annibale A"^^ . "Puca"^^ . "Annibale A Puca"^^ . . "Robert"^^ . "Perneczky"^^ . "Robert Perneczky"^^ . . "Gianluigi"^^ . "Forloni"^^ . "Gianluigi Forloni"^^ . . "Anna"^^ . "Richardson"^^ . "Anna Richardson"^^ . . "Mark"^^ . "Kristiansen"^^ . "Mark Kristiansen"^^ . . "Silvia"^^ . "Bagnoli"^^ . "Silvia Bagnoli"^^ . . "Janine"^^ . "Diehl-Schmid"^^ . "Janine Diehl-Schmid"^^ . . "Ronald C"^^ . "Petersen"^^ . "Ronald C Petersen"^^ . . "Simon"^^ . "Mead"^^ . "Simon Mead"^^ . . "Giacomina"^^ . "Rossi"^^ . "Giacomina Rossi"^^ . . "Paolo"^^ . "Sorrentino"^^ . "Paolo Sorrentino"^^ . . "Daniela"^^ . "Galimberti"^^ . "Daniela Galimberti"^^ . . "Karin"^^ . "Nilsson"^^ . "Karin Nilsson"^^ . . "Ging-Yuek R"^^ . "Hsiung"^^ . "Ging-Yuek R Hsiung"^^ . . "Pietro"^^ . "Pietrini"^^ . "Pietro Pietrini"^^ . . "Isabelle Le"^^ . "Ber"^^ . "Isabelle Le Ber"^^ . . "Bruce L"^^ . "Miller"^^ . "Bruce L Miller"^^ . . "Ian R A"^^ . "Mackenzie"^^ . "Ian R A Mackenzie"^^ . . "Eric"^^ . "Haan"^^ . "Eric Haan"^^ . . "Sara"^^ . "Ortega-Cubero"^^ . "Sara Ortega-Cubero"^^ . . "Roberta"^^ . "Ghidoni"^^ . "Roberta Ghidoni"^^ . . . . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (PDF)"^^ . . . . . "nihms599470.pdf"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "preview.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "medium.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "small.jpg"^^ . . "HTML Summary of #2875 \n\nFrontotemporal dementia and its subtypes: a genome-wide association study\n\n" . "text/html" . . . "RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry"@en . .